Gene: ABAT

Alternate names for this Gene: GABA-AT|GABAT|NPD009

Gene Summary: 4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.2

Description of this Gene: 4-aminobutyrate aminotransferase

Type of Gene: protein-coding

rs121434578 in ABAT gene and Gamma aminobutyric acid transaminase deficiency PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 10407778 1999 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.

PMID 31133775 2019 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.

PMID 27903293 2016 Personalized medicine approach confirms a milder case of ABAT deficiency.

PMID 25738457 2015 The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

rs121434578 in ABAT gene and Generalized hypotonia PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs121434578 in ABAT gene and Hyperreflexia PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs1641025 in ABAT gene and Malignant Neoplasms PMID 30277654 2018 Gamma-aminobutyric acid transaminase genetic polymorphism is a candidate locus for responsiveness to opioid analgesics in patients with cancer pain: An exploratory study.

rs121434578 in ABAT gene and Seizures, intractable PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

rs1273385 in ABAT gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs121434578 in ABAT gene and Severe global developmental delay PMID 20052547 2010 A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.